The Patient Voice 2027
Small Numbers, Big Impact: Using Real-World Experience and Patient Insights to Create Standards of Care
Course Director: Jeanine R. Jarnes, PharmD, MSc, BCOP, BCPS
Sunday, January 31, 2027
15:30 – 16:30 PST
(1.0 Hour CE Session*)
For many lysosomal diseases, and especially the ultra-rare ones, traditional research simply breaks down. Randomized trials are often impossible, and registries and natural history studies struggle to enroll enough patients to produce meaningful results. In many cases, the day-to-day clinical care of a handful of diagnosed patients is the best evidence available, and sometimes the only evidence.
Patient advocacy groups are proving they can capture that evidence without a formal registry. Communities in Niemann-Pick disease, the mannosidoses, ultra-rare MPS, metachromatic leukodystrophy (MLD), multiple sulfatase deficiency (MSD), glycoproteinoses, and others have already built working models: defining minimum data sets, partnering with physicians, standardizing collection, and preserving data for research.
That real-world data does more than fill gaps. It lays the groundwork for published standards of care, even where no targeted therapy exists, which in turn deepens disease understanding, sharpens outcome measures, raises visibility, and creates a foundation for future research.
This session shares proven examples and practical steps advocacy organizations can use to turn real-world data into standards of care and to engage regulators in driving meaningful change.
Format/Agenda: Expert panel interviews and discussion with focused questions intended to address the stated issues. The session will conclude with audience Q&A.
15:30 Welcome and Introduction of Faculty
15:35 Focused Interview Questions for Faculty with Panel Discussion
16:20 Open Audience Q&A
16:30 Adjourn
Course Director:
Jeanine Jarnes, PharmD, BCOP, BCPS
MSc Pharmacogenomics
Board Certified Pharmacotherapy Specialist
Board Certified Oncology Pharmacist
Assistant Professor, Department of Pediatrics
University of Minnesota Medical School
Pharmacotherapy for Inherited Metabolic Diseases
Advanced Therapies Department
College of Pharmacy, Experimental and Clinical Pharmacology
Minneapolis, Minnesota, United States
Chair:
Philip J. (P.J.) Brooks, PhD
Deputy Director, Division of Rare Diseases Research Innovation
NIH – NCATS
Bethesda, Maryland, United States
Faculty:
Jenny Jackson, MS Physiology
President
International Society for Mannosidosis and Related Diseases (ISMRD)
Saratoga, NC, USA
Tracey Sikora
Vice President of Research and Clinical Programs
National Organization for Rare Diseases (NORD)
Boston, Massachusetts, USA
Toni Mathieson
Chief Executive
Nieman-Pick UK (NPUK)
Newcastle Upon Tyne, England, United Kingdom
Target Audience: This activity has been designed to meet the educational needs of physicians, nurses, NP’s and PA’s, genetic counselors, researchers, patient advocates, and other attendees at WORLDSymposium who care for and treat patients with lysosomal diseases.
Learning Objectives:
At the end of this session, participants will be able to:
- Identify the threshold at which a disease’s rarity precludes clinical trials, registries, and natural history studies, and describe why routine clinical documentation, captured collaboratively by advocates and physicians, becomes the primary evidence source at that threshold.
- Identify at least one free or low-cost registry infrastructure option suitable for an ultra-rare disease community, and describe how a comparable disease built a working registry at a similar patient scale.
- Explain why data harmonization across clinical sites is essential for clinical-care data to be used as evidence for treatment development, and describe how patient advocates and physicians can collaborate to align documentation practices around a shared minimum data set.
WORLDSymposium is presenting the 4th Annual Patient Voice to be held on Sunday, January 31, 2027 from 15:30 – 16:30 PST just prior to the 23rd Annual WORLDSymposium opening event, “Be the Catalyst”.
This session is open to all attendees. It will also be recorded and offered as part of the On Demand program through March 12, 2027.